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F. Wijburg · SciRah

Researcher profile · Semantic Scholar

F. Wijburg

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F. Wijburg — researcher profile on SciRah

h-index: 69
Works: 378
Citations: 17K

Most-cited papers

Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
M. Arends, C. Wanner, D. Hughes, A. Mehta +7 more
2017Journal of the American Society of Nephrology350 citations Open access
Semantic Scholar
Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle
Suzan J G Knottnerus, J. C. Bleeker, R. Wüst, S. Ferdinandusse +5 more
2018Reviews in Endocrine & Metabolic Disorders281 citations Open access
Semantic Scholar
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy
S. Byrne, L. Jansen, J. U-King-im, A. Siddiqui +50 more
2016Brain : a journal of neurology137 citations Open access
Semantic Scholar
Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency
C. Coughlin, Laura A. Tseng, J. Abdenur, C. Ashmore +33 more
2020Journal of Inherited Metabolic Disease100 citations Open access
Semantic Scholar
Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease.
M. Arends, F. Wijburg, C. Wanner, F. Vaz +6 more
2017Molecular Genetics and Metabolism80 citations
Semantic Scholar
Impact of age at onset and newborn screening on outcome in organic acidurias
Jana Heringer, V. Valayannopoulos, A. Lund, F. Wijburg +17 more
2016Journal of Inherited Metabolic Disease80 citations Open access
Semantic Scholar
Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry
L. Clarke, R. Giugliani, N. Guffon, S. Jones +7 more
2019Clinical Genetics79 citations Open access
Semantic Scholar
UvA-DARE ( Digital Academic Repository ) Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype
M. Valstar, H. Bruggenwirth, R. Olmer, R. Wevers +4 more
201779 citations
Semantic Scholar
Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor
Rinse W. Barendsen, Inge M. E. Dijkstra, W. Visser, M. Alders +21 more
2020Frontiers in Cell and Developmental Biology60 citations Open access
Semantic Scholar
Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications
G. Kuiper, O. Meijer, E. Langereis, F. Wijburg
2018Orphanet Journal of Rare Diseases56 citations Open access
Semantic Scholar
Systematic Review of N-of-1 Studies in Rare Genetic Neurodevelopmental Disorders
Annelieke R. Müller, M. Brands, P. van de Ven, K. Roes +6 more
2021Neurology55 citations Open access
Semantic Scholar
Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.
M. Voorink-Moret, S. Goorden, A. V. van Kuilenburg, F. Wijburg +6 more
2017Molecular Genetics and Metabolism47 citations
Semantic Scholar
Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure.
J. H. van der Lee, J. Morton, Heather R. Adams, L. Clarke +14 more
2017Molecular Genetics and Metabolism46 citations Open access
Semantic Scholar
Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy.
M. van de Beek, R. Ofman, Inge M. E. Dijkstra, F. Wijburg +3 more
2017Biochimica et Biophysica Acta - Molecular Basis of Disease46 citations Open access
Semantic Scholar
Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial.
F. Wijburg, C. Whitley, J. Muenzer, S. Gasperini +8 more
2019Molecular Genetics and Metabolism45 citations Open access
Semantic Scholar
Attitudes of the general population towards preconception expanded carrier screening for autosomal recessive disorders including inborn errors of metabolism.
Stephanie C. M. Nijmeijer, T. Conijn, Phillis Lakeman, L. Henneman +2 more
2019Molecular Genetics and Metabolism40 citations Open access
Semantic Scholar
Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes.
L. Welling, A. Boelen, T. Derks, P. Schielen +4 more
2017Molecular Genetics and Metabolism39 citations
Semantic Scholar
Early start of enzyme replacement therapy in pediatric male patients with classical Fabry disease is associated with attenuated disease progression.
S. J. van der Veen, S. Körver, A. Hirsch, C. Hollak +5 more
2021Molecular Genetics and Metabolism38 citations Open access
Semantic Scholar
High dose genistein in Sanfilippo syndrome: A randomised controlled trial
Arunabha Ghosh, S. Rust, Kia J. Langford-Smith, D. Weisberg +12 more
2021Journal of Inherited Metabolic Disease38 citations Open access
Semantic Scholar
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea‐cycle disorders: On the basis of information from a European multicenter registry
F. Molema, F. Gleich, P. Burgard, A. T. Ploeg +64 more
2019Journal of Inherited Metabolic Disease38 citations Open access
Semantic Scholar
Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach
Loek L Crefcoeur, G. Visser, S. Ferdinandusse, F. Wijburg +2 more
2022Journal of Inherited Metabolic Disease37 citations Open access
Semantic Scholar
Nutritional ketosis improves exercise metabolism in patients with very long‐chain acyl‐CoA dehydrogenase deficiency
J. C. Bleeker, G. Visser, K. Clarke, S. Ferdinandusse +16 more
2020Journal of Inherited Metabolic Disease36 citations Open access
Semantic Scholar
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy
C. Coughlin, Laura A. Tseng, L. Bok, H. Hartmann +19 more
2022Neurology35 citations Open access
Semantic Scholar
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates
Suzan J G Knottnerus, I. Mengarelli, R. Wüst, A. Baartscheer +15 more
2020International Journal of Molecular Sciences32 citations Open access
Semantic Scholar
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
F. Molema, F. Gleich, P. Burgard, A. T. van der Ploeg +63 more
2019Molecular Genetics and Metabolism32 citations Open access
Semantic Scholar
Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.
U. Ramaswami, Daniel G. Bichet, L. Clarke, G. Dostálová +14 more
2019Molecular Genetics and Metabolism30 citations Open access
Semantic Scholar
Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation.
E. Langereis, M. D. den Os, C. Breen, S. Jones +13 more
2016Journal of Bone and Joint Surgery. American volume29 citations Open access
Semantic Scholar
Altered interaction and distribution of glycosaminoglycans and growth factors in mucopolysaccharidosis type I bone disease.
Sandra D. K. Kingma, T. Wagemans, L. Ijlst, A. Bronckers +4 more
2016Bone26 citations
Semantic Scholar
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency
Svenja Scharré, R. Posset, S. Garbade, F. Gleich +45 more
2022Annals of Clinical and Translational Neurology25 citations Open access
Semantic Scholar
Psychosocial Functioning in Parents of MPS III Patients.
T. Conijn, Stephanie C. M. Nijmeijer, H. V. van Oers, F. Wijburg +1 more
2019JIMD Reports25 citations
Semantic Scholar
Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.
Laura A. Tseng, J. Abdenur, A. Andrews, Verena G. Aziz +14 more
2022Molecular Genetics and Metabolism24 citations Open access
Semantic Scholar
Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?
R. Peake, D. Marsden, O. Bodamer, M. Gelb +2 more
2016Clinical Chemistry24 citations Open access
Semantic Scholar
Prediction of phenotypic severity in mucopolysaccharidosis type IIIA
Suzan J G Knottnerus, Stephanie C. M. Nijmeijer, L. Ijlst, Heleen te Brinke +2 more
2017Annals of Neurology23 citations Open access
Semantic Scholar
Cardiac disease in mucopolysaccharidosis type III
Stephanie C. M. Nijmeijer, R. D. de Bruin-Bon, F. Wijburg, I. Kuipers
2019Journal of Inherited Metabolic Disease22 citations Open access
Semantic Scholar
Preconception expanded carrier screening: Impact of information presented by text or video on genetic knowledge and attitudes
T. Conijn, Stephanie C. M. Nijmeijer, Phillis Lakeman, L. Henneman +2 more
2020Journal of Genetic Counseling20 citations Open access
Semantic Scholar
Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB
O. Meijer, L. Welling, M. Valstar, L. Hoefsloot +6 more
2016Journal of Inherited Metabolic Disease20 citations Open access
Semantic Scholar
The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.
E. Diekman, M. G. M. de Sain-van der Velden, H. Waterham, L. Kluijtmans +5 more
2016JIMD Reports20 citations
Semantic Scholar
Endogenous Oxalate Production in Primary Hyperoxaluria Type 1 Patients
S. Garrelfs, D. van Harskamp, H. Peters-Sengers, C. V. D. van den Akker +6 more
2021Journal of the American Society of Nephrology19 citations Open access
Semantic Scholar
An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA.
F. Wijburg, Karen Aiach, A. Chakrapani, J. Eisengart +6 more
2021Molecular Genetics and Metabolism19 citations Open access
Semantic Scholar
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands
M. Schwantje, S. A. Fuchs, L. de Boer, Annet M. Bosch +14 more
2022Journal of Inherited Metabolic Disease17 citations Open access
Semantic Scholar
Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots.
Suzan J G Knottnerus, Mia L. Pras-Raves, M. van der Ham, S. Ferdinandusse +5 more
2020Biochimica et Biophysica Acta - Molecular Basis of Disease17 citations Open access
Semantic Scholar
Newborn screening for primary carnitine deficiency: who will benefit? – a retrospective cohort study
Loek L Crefcoeur, S. Ferdinandusse, S. N. van der Crabben, E. Dekkers +14 more
2023Journal of Medical Genetics14 citations Open access
Semantic Scholar
Exploring the metabolic fate of medium-chain triglycerides in healthy individuals using a stable isotope tracer.
Suzan J G Knottnerus, D. van Harskamp, H. Schierbeek, J. C. Bleeker +10 more
2020Clinical Nutrition14 citations Open access
Semantic Scholar
Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure
G. Kuiper, E. Langereis, S. Breyer, M. Carbone +18 more
2019Orphanet Journal of Rare Diseases14 citations Open access
Semantic Scholar
Effectiveness of time-limited eye movement desensitization reprocessing therapy for parents of children with a rare life-limiting illness: a randomized clinical trial
T. Conijn, C. de Roos, H. Vreugdenhil, E. M. van Dijk-Lokkart +2 more
2022Orphanet Journal of Rare Diseases12 citations Open access
Semantic Scholar
Easy‐to‐use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment
A. Tylki-Szymańska, L. D. De Meirleir, M. Dirocco, W. Fathalla +7 more
2018Acta paediatrica11 citations Open access
Semantic Scholar
Focal lesions following intracerebral gene therapy for mucopolysaccharidosis IIIA
M. Bugiani, T. Abbink, Arthur W. D. Edridge, L. van der Hoek +10 more
2023Annals of Clinical and Translational Neurology10 citations Open access
Semantic Scholar
Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith–Magenis syndrome: protocol for a series of N-of-1 trials
A. R. Müller, J. Zinkstok, N. Rommelse, P. van de Ven +6 more
2021Orphanet Journal of Rare Diseases10 citations Open access
Semantic Scholar
Preconception expanded carrier screening: a focus group study with relatives of mucopolysaccharidosis type III patients and the general population
T. Conijn, I. van Dijke, L. Haverman, Phillis Lakeman +2 more
2021Journal of Community Genetics10 citations Open access
Semantic Scholar
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation
A. Verkerk, Suzan J G Knottnerus, V. Portero, J. C. Bleeker +9 more
2021Frontiers in Pharmacology10 citations Open access
Semantic Scholar

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S. Ferdinandusse — researcher profile on SciRah
G. Visser×10
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L. Ijlst×8
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R. Wanders×7
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Suzan J G Knottnerus×6

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F. Vaz — researcher profile on SciRah

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Stephanie C. M. Nijmeijer×5

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Stephanie C. M. Nijmeijer — researcher profile on SciRah